K32T (p.Lys32Thr) variant of PRKN (O60260)
K32T (p.Lys32Thr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K32T (p.Lys32Thr) variant details
- p.Lys32Thr
- ExAC rs781111288
- TOPMed rs781111288
- gnomAD rs781111288
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.54
- MetaLR 0.26
- MetaSVM -0.56
- CADD 22.90
- PolyPhen-2 0.51
- SIFT 0.42
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.01